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Gene | PALB2 |
Variant | R37P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PALB2 R37P lies within the DNA-binding, and BRCA1 and RAD51-interacting regions of the Palb2 protein (UniProt.org). R37P results in intermediate homology-directed DNA repair activity in cultured cells (PMID: 33964450), but has not been fully biochemically characterized and therefore, its effect on Palb2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PALB2 mutant PALB2 R37P |
Transcript | NM_024675.4 |
gDNA | chr16:g.23637951C>G |
cDNA | c.110G>C |
Protein | p.R37P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_024675.3 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_001407302.1 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_001407301.1 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_001407297.1 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_001407299.1 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
XM_017023672.2 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
XM_017023673.2 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_001407298.1 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_001407300.1 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
NM_024675.4 | chr16:g.23637951C>G | c.110G>C | p.R37P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PALB2 R37P | unknown |